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Article

Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP).

Biochemical and biophysical research communications - 8 Feb 2008

Ke Ning, Ma Hongwen, Diedrich Gundo, Chionis John, Liu Guohong, Yu De-Hua, Wong-Staal Flossie, Li Qi-Xiang

Abstract excerpt

Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic disease characterized by cortical malformation associated with GPR56 mutations of frameshift, splicing, and point mutations (Science 303:2033). All the missense point mutations are located in the regions predicted to be exposed at the cell surface, e.g. the N-terminal extracellular domain (ECD), the proteolytic site (GPS), and the extracellular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18042463
DOI: 10.1016/j.bbrc.2007.11.071

Genes

ECD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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